This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: GALNS
GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 13 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Associated with Mucopolysaccharidosis IVA (MIM:253000) in OMIM but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.Created: 1 Mar 2018, 10:11 p.m.
Details
- Sources
-
- Expert Review Red
- OMIM
- 612222
- Clinvar variants
- Variants in GALNS
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Fetal anomalies
- DDG2P
- Hyperammonaemia
- Skeletal dysplasia
- Fetal hydrops
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type IVA
- Likely inborn error of metabolism
- Intellectual disability
History Filter Activity
1 Mar 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GALNS was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)GALNS was created by Ellen McDonagh